Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
Lore Pottie,Christin S. Adamo,Aude Beyens,Steffen Luetke,Piyanoot Tapaneeyaphan,Adelbert De Clercq,Phil Salmon,Riet De Rycke,Alper Gezdirici,Elif Yilmaz Gulec,Naz Khan,Jill E. Urquhart,William G. Newman,Kay Metcalfe,Stephanie Efthymiou,Reza Maroofian,Najwa Anwar,Shazia Maqbool,Fatima Rahman,Ikhlass Altweijri,Monerah Alsaleh,Sawsan Mohamed Abdullah,Mohammad Al-Owain,Mais Hashem,Henry Houlden,Fowzan S. Alkuraya,Patrick Sips,Gerhard Sengle,Bert Callewaert EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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